Beals Syndrome (congenital contractural arachnodactyly, CCA) is a rare disorder that can be confused with Marfan's syndrome.

Chromosome location: 5q23.3

Gene: fibrillin 2 (FBN2; Marfan's syndrome affects FBN1)


Inheritance: autosomal dominant


Clinical features:

(1) Marfanoid body habitus with tall stature

(2) arachnodactyly

(3) joint contractures, including fist-like hand contractures at birth

(4) variable joint dislocations (patella, other)

(5) mitral valve prolapse

(6) mild dilatation of the aortic root that usually does not progress

(7) variable ophthalmologic abnormalities (heterotopia, glaucoma, early-onset macular degeneration)

(8) high-arched palate

(9) pectus carinatum or excavatum

(10) variable scoliosis or kyphosis

(11) helix with crumpled irregular superior helix and prominent antihelix and root of the helix

(12) normal mental status

(13) osteoporosis

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